@inproceedings{inproceedings, title = {{Proteomics to identify disease-associated variants in rare disease patients undiagnosed after whole-genome sequencing: a proof-of-concept study in the 100,000 Genomes Project (Award Candidate)}}, url = {{}}, year = {{2025}}, month = {{11}}, author = {{Carrasco J and Sanchez Z and Pietzner M and Kousathanas A and Jacobsen J and Lord J and Robinson PN and Baralle D and Wareham NJ and Brown MA and Elgar G et al}}, volume = {{33}}, journal = {{EUROPEAN JOURNAL OF HUMAN GENETICS}}, pages = {{63-63}}, note = {{Accessed on 2026/03/31}}}